title: Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation.
abstract: The clinical phenotype of frontotemporal dementia patients carrying progranulin (GRN) mutations is known to be heterogeneous. We present a patient with corticobasal syndrome and a family with progressive aphasia and behavioral features who were found to have the same p.Gln257Profs*27 mutation. These cases depict the variability of GRN mutation carriers regarding clinical presentation and age of onset. In addition to giving a detailed report of a GRN mutation, we highlight the importance of searching for the presence of GRN mutations in selected sporadic cases and suggest a broadening of GRN genetic screening to better understand the clinical spectrum of these mutations.
authors.affiliation: Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.
authors.forename: Carolina
authors.initials: C
authors.lastname: Pires
authors.forename: Miguel
authors.initials: M
authors.lastname: Coelho
authors.forename: Anabela
authors.initials: A
authors.lastname: Valadas
authors.forename: Cândida
authors.initials: C
authors.lastname: Barroso
authors.forename: José
authors.initials: J
authors.lastname: Pimentel
authors.forename: Madalena
authors.initials: M
authors.lastname: Martins
authors.forename: Charles
authors.initials: C
authors.lastname: Duyckaerts
authors.forename: Alexandre
authors.initials: A
authors.lastname: de Mendonça
authors.forename: Ana
authors.initials: A
authors.lastname: Verdelho
authors.forename: Gabriel
authors.initials: G
authors.lastname: Miltenberger-Miltenyi
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000473:pathology; D005973:Glutamine / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008609:Mental Status Schedule; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D000077153:Progranulins; D011392:Proline / Q000235:genetics
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D005973:Glutamine; D011392:Proline